Canonical Allele Identifier: CA1581268409

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128333002A= , CM000667.2:g.128333002A=	GRCh38
NC_000005.9:g.127668694A= , CM000667.1:g.127668694A=	GRCh37
NC_000005.8:g.127696593A=	NCBI36
NG_008750.1:g.210042T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.916T=
ENST00000703785.1:n.997T=
ENST00000262464.9:c.4132T= MANE Select	ENSP00000262464.4:p.Cys1378=
ENST00000262464.8:c.4132T=	ENSP00000262464.4:p.Cys1378=
ENST00000507835.5:c.682T=	ENSP00000426839.1:p.Cys228=
ENST00000508053.5:c.4132T=	ENSP00000424571.1:p.Cys1378=
ENST00000508989.5:c.4033T=	ENSP00000425596.1:p.Cys1345=
ENST00000619499.4:c.4129T=	ENSP00000482132.1:p.Cys1377=
NM_001999.3:c.4132T=	NP_001990.2:p.Cys1378=
XM_017009228.2:c.3979T=	XP_016864717.1:p.Cys1327=
NM_001999.4:c.4132T= MANE Select	NP_001990.2:p.Cys1378=